| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR2 | R2474S | Ventricular tachycardia, polymorphic | High | 9 | 11208676, 12837242, 16239587, 18483626, 22828895, 24025405 |
| RYR2 | R2474G | Catecholaminergic polymorphic ventricular tachycar | High | 9 | 23595086 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.
| RYR1 | TLGKDGALVQPKMSASFVPDHKASMVLFLD>R<VYGIENQDFLLHVLDVGFLPDMRAAASLDT | 2538 |
| RYR2 | TIAKDGNVVEPDMSAGFCPDHKAAMVLFLD>R<VYGIEVQDFLLHLLEVGFLPDLRAAASLDT | 2504 |
| RYR3 | SLNKDGSVSEPDMAANFCPDHKAPMVLFLD>R<VYGIKDQTFLLHLLEVGFLPDLRASASLDT | 2401 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2508G | c.7522C>G | Other Myopathy | rs118192178 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918 | |||
| Other Myopathy | Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg. 2010 111(1):185-90. 20142353 | ||||
| Other Myopathy | Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006 104(6):1146-54. 16732084 | ||||
| Other Myopathy | Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia. Anesth Analg. 2015 121(4):994-1000. doi: 10.1213/ANE.0000000000000886 26381711 | ||||
| p.R2508C | c.7522C>T | Other Myopathy | rs118192178 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918 | |||
| Other Myopathy | Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47. J Anesth. 2009 23(3):341-6. doi: 10.1007/s00540-009-0746-3. 19685112 | ||||
| Other Myopathy | Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006 104(6):1146-54. 16732084 | ||||
| Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
| p.R2508H | c.7523G>A | Other Myopathy | rs193922818 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918 | |||
| Other Myopathy | Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006 104(6):1146-54. 16732084 | ||||
| Other Myopathy | Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838 | ||||
| Other Myopathy | Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia. Anesth Analg. 2015 121(4):994-1000. doi: 10.1213/ANE.0000000000000886 26381711 | ||||